2018
DOI: 10.1016/j.ebiom.2018.02.010
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Abstract: Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10 years (range: 5·4 months−37 years, IQR = 17·9 years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), a… Show more

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Cited by 51 publications
(47 citation statements)
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References 29 publications
(39 reference statements)
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“…In our patients with maternally inherited CI deficiency, MRI revealed both the involvement of deep grey matter structures and stroke-like lesions similar to other reports [4]. We also demonstrated the coexistence of LS and stroke-like lesions in 4 of the 13 patients, suggesting that an overlap between the LS and MELAS phenotypes is not rare in patients with maternally inherited CI deficiency.…”
Section: Discussionsupporting
confidence: 89%
See 1 more Smart Citation
“…In our patients with maternally inherited CI deficiency, MRI revealed both the involvement of deep grey matter structures and stroke-like lesions similar to other reports [4]. We also demonstrated the coexistence of LS and stroke-like lesions in 4 of the 13 patients, suggesting that an overlap between the LS and MELAS phenotypes is not rare in patients with maternally inherited CI deficiency.…”
Section: Discussionsupporting
confidence: 89%
“…Leber Hereditary Optic Neuropathy (LHON) syndrome with acute or subacute loss of vision usually starts during the second or third decade of life. In addition, several studies have also documented the LHON/MELAS overlap syndromes [3][4][5].…”
Section: Introductionmentioning
confidence: 99%
“…They indicate that metabolic decompensation can also occur in spinal cord in addition to basal ganglia and brainstem, as shown in other mitochondrial genetic defects as well as postmortem spinal cord tissue from patients with LS. 21,22 White matter changes ranging from patchy changes to symmetrical, confluent subcortical white matter signal abnormality (leukodystrophy) were present in 55% of the patients presented here. The underlying neurobiological mechanism remains elusive as no neuropathological study is available to date.…”
Section: Discussionmentioning
confidence: 82%
“…7,8 Individual pathogenic MT-ATP6 variants were screened either by quantitative pyrosequencing or by fluorescent restriction fragment length polymorphism analysis, which permitted the quantitation of mtDNA heteroplasmy at the relevant nucleotide to a level of >3% heteroplasmy. 9,10 Statistical Analysis Descriptive statistical analysis was performed using Minitab (version 17.0; Minitab, State College, PA), SPSS (version 23.0; IBM, Armonk, NY), and R (version 3.5, R Foundation for Statistical Computing, Vienna, Austria). Nonparametric tests were performed to determine if there was any statistically significant difference between the different groups.…”
Section: Molecular Genetics and Measurement Of Mutant Heteroplasmymentioning
confidence: 99%